Condition: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6


rs201765587 in PARN gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 PMID 31448843 2019 From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

PMID 25893599 2015 Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.